Results 31 to 40 of about 1,760 (179)
Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt
Heliyon, 2021 Background: Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD).
Ekram Fateen +4 more
doaj +1 more source
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
Diagnostics, 2020 Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological ...
Ya-Ting Jan +6 more
doaj +1 more source
Diagnosing mucopolysaccharidosis IVA [PDF]
, 2013 Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
Andrea Schenone +77 more
core +2 more sources
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA [PDF]
, 2020 Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage ...
Álvarez, V. J. +19 more
core +3 more sources
Acta Orthopaedica et Traumatologica Turcica, 2020 Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth.
Ali Bulent Baz +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Cardiovascular disease frequently causes morbidity and mortality in mucopolysaccharidoses (MPS); however, cardiovascular anatomy and dysfunction in MPS IVA (Morquio A disease) is not well described.
Raymond Y. Wang +12 more
doaj +1 more source
Increased Choroidal Thickness in Morquio Syndrome
Case Reports in Ophthalmology, 2021 The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent ...
Augusto Magalhães +6 more
doaj +1 more source
Biomarkers in patients with mucopolysaccharidosis type II and IV
Molecular Genetics and Metabolism Reports, 2019 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka +11 more
doaj +1 more source
Педиатрическая фармакология, 2022 Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy ...
Yulia P. Semschikova +6 more
doaj +1 more source